Table 1 Pathogenic chromosomal rearrangements detected in our sample (70/293)
Known microdeletion/ microduplication syndromes or other chromosomal anomalies (27/70) | New microdeletion/ microduplication syndromes (26/70) | Rare conditions of microdeletion/ microduplication or other chromosomal anomalies (17/70) |
|---|---|---|
- 22q11.2 deletion syndrome(4) - 22q11.2 distal deletion syndrome(1) - Wolf Syndrome(2) - Phelan McDermid Syndrome(2) - Di George 2 Syndrome(1) - 16p11.2 deletion syndrome(5) - Smith Magenis syndrome(1) - Xq28 duplication syndrome(3) - 1p36 deletion syndrome(2) - Turner syndrome with X-isochromosome(1) - Tetrasomy 18p(1) - Deletion Xq25 - Lowe Syndrome(1) - 1p31.1 amplification - Carney Complex(1) - Paternal UPD 14-like(1) - 11qter deletion syndrome and 9p duplication syndrome(1) | - 15q11.2 deletion syndrome(3) - 15q11.2 duplication syndrome(1) - 1q42 duplication syndrome(1) - 1q43q44 deletion syndrome(2) - 2q37 deletion syndrome(2) - 18q12.3 deletion syndrome(1) - 1q21.1 deletion syndrome(2) - 2q31.1 deletion syndrome(1) - 3q13.31 deletion syndrome(1) - 17p13.1 duplication syndrome (1) - 4q21 deletion syndrome(1) - 15q24.1 deletion syndrome(1) - 2q23.1 duplication syndrome(1) - 5q35.2q35.3 duplication syndrome(1) - 14q32.3ter deletion syndrome(1) - 16p13.11 deletion syndrome(1) - 15q11q13 duplication syndrome(1) - Xp22.31 duplication syndrome (1) - 15q13.3 deletion syndrome(1) - 8p23.1 deletion syndrome(1) - Xp11.2 duplication syndrome (1) | - Unbalanced translocation [t(7;9), t(9;10), 2 t(10;16), t(8;12)] (5) - Trip(mos)13q11q12.11 + dup(mos)13q12.11q12.3 (1) - del 7p22.3p22.2 (1) - del 15q21.3q22.2 (1) - del 18q11.2 (1) - dup 1q41q43 (1) - dup 14q11.2q12 (1) - dup 20q13.2q13.33 (1) - del 1q44 (1) - del 19q13.42q13.43 (1) - del 7q11.23q21.11 (1) - del 7q21.13q21.3 (1) - del 11q25ter (1) |